rs148361794
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 2P and 8B. PM2BP4_ModerateBP6BP7BS1
The NM_006612.6(KIF1C):c.18G>A(p.Val6Val) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000442 in 1,577,428 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_006612.6 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000342 AC: 52AN: 152232Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000325 AC: 63AN: 193592Hom.: 0 AF XY: 0.000298 AC XY: 31AN XY: 104088
GnomAD4 exome AF: 0.000453 AC: 646AN: 1425078Hom.: 0 Cov.: 30 AF XY: 0.000431 AC XY: 304AN XY: 705774
GnomAD4 genome AF: 0.000341 AC: 52AN: 152350Hom.: 0 Cov.: 33 AF XY: 0.000309 AC XY: 23AN XY: 74498
ClinVar
Submissions by phenotype
not provided Benign:2
KIF1C: BP4 -
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
Hereditary spastic paraplegia Uncertain:1
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Spastic ataxia 2 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at